Canonical Allele Identifier: CA2840532445

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697601_50697602del , CM000684.2:g.50697601_50697602del	GRCh38
NC_000022.10:g.51136029_51136030del , CM000684.1:g.51136029_51136030del	GRCh37
NC_000022.9:g.49482895_49482896del	NCBI36
NG_008607.2:g.28247_28248del
NG_070230.1:g.33466_33467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.985_986del	ENSP00000489147.2:p.Gly329ProfsTer25
ENST00000414786.7:n.1569_1570del
ENST00000445220.7:c.37_38del	ENSP00000489407.2:p.Gly13ProfsTer25
ENST00000673971.2:c.1342_1343del	ENSP00000501192.1:p.Gly448ProfsTer25
ENST00000445220.6:c.37_38del	ENSP00000489407.2:p.Gly13ProfsTer25
ENST00000262795.6:c.985_986del	ENSP00000489147.2:p.Gly329ProfsTer25
ENST00000673971.1:c.1342_1343del	ENSP00000501192.1:p.Gly448ProfsTer25
ENST00000673995.1:c.38_39del
ENST00000262795.5:c.1381_1382del	ENSP00000489147.1:p.Gly461ProfsTer25
ENST00000414786.6:n.1569_1570del
ENST00000445220.5:c.1363_1364del	ENSP00000489407.1:p.Gly455ProfsTer25